Variant report

Variant	rs10127930
Chromosome Location	chr1:114328921-114328922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114324961..114329121-chr1:114330799..114335017,4	K562	blood:
2	chr1:114323264..114325037-chr1:114328187..114331167,2	MCF-7	breast:
3	chr1:114327437..114329156-chr20:52046774..52049657,4	MCF-7	breast:
4	chr1:114328514..114333064-chr1:114341407..114344891,4	MCF-7	breast:
5	chr1:114327966..114331682-chr1:114351317..114354646,4	K562	blood:
6	chr1:114328778..114330524-chr1:114356002..114358094,2	K562	blood:
7	chr1:114328870..114331856-chr1:114340640..114342248,2	K562	blood:
8	chr1:114322719..114325037-chr1:114328729..114331001,2	MCF-7	breast:
9	chr1:114327292..114330449-chr1:114353536..114357083,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081019	Chromatin interaction
ENSG00000231128	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10489936	0.88[EUR][1000 genomes]
rs1080307	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1217384	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12723023	0.84[EUR][1000 genomes]
rs12729708	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12730735	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12731010	0.86[EUR][1000 genomes]
rs12734625	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12735104	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12739970	0.84[EUR][1000 genomes]
rs12746609	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12748727	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12752932	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12753075	0.85[EUR][1000 genomes]
rs12753351	0.89[EUR][1000 genomes]
rs12758546	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12760457	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13374352	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17274550	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17274620	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17274634	0.89[EUR][1000 genomes]
rs17359302	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17462614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1885454	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2040040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359173	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2359174	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34042871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34341173	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34649199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34698891	0.90[EUR][1000 genomes]
rs34857922	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34877889	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35320278	0.89[EUR][1000 genomes]
rs35383900	0.89[EUR][1000 genomes]
rs35836713	0.89[EUR][1000 genomes]
rs36115604	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747998	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3748003	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3761931	0.88[EUR][1000 genomes]
rs3789595	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3789599	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3789607	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3789609	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61817579	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61817586	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61817617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61819423	0.85[EUR][1000 genomes]
rs61819424	0.82[EUR][1000 genomes]
rs61820162	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6668829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674848	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6703387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7533391	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7533605	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7549685	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7555354	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9803891	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:114311000-114335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:114311000-114336800	Weak transcription	Fetal Kidney	kidney
5	chr1:114311000-114341800	Weak transcription	Esophagus	oesophagus
6	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:114320000-114336200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:114320000-114340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:114320200-114337200	Weak transcription	Placenta	Placenta
11	chr1:114320400-114330200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:114320400-114331600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:114320400-114337200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:114320600-114331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:114323200-114329200	Enhancers	Fetal Heart	heart
16	chr1:114323400-114329000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:114323400-114329200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:114323800-114330600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:114326600-114330800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:114326600-114335000	Weak transcription	Fetal Stomach	stomach
21	chr1:114326600-114335200	Weak transcription	HMEC	breast
22	chr1:114326600-114337800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:114326800-114329200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:114326800-114329400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:114326800-114329800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:114326800-114330000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:114326800-114330200	Weak transcription	Osteobl	bone
28	chr1:114326800-114335200	Weak transcription	HUVEC	blood vessel
29	chr1:114326800-114335800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:114326800-114335800	Weak transcription	NH-A	brain
31	chr1:114326800-114338600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:114326800-114340000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:114327000-114330800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:114327000-114335000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:114327000-114335200	Weak transcription	NHDF-Ad	bronchial
36	chr1:114327000-114336000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:114327000-114337000	Weak transcription	Brain Germinal Matrix	brain
38	chr1:114327200-114329200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:114327200-114331600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:114327200-114331600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:114327200-114331800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:114327200-114332000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:114327200-114333200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:114327200-114334800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:114327200-114337400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:114327400-114329000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr1:114327400-114329000	Enhancers	Dnd41	blood
48	chr1:114327400-114329200	Enhancers	Primary T cells from cord blood	blood
49	chr1:114327400-114329200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr1:114327400-114329200	Enhancers	Psoas Muscle	Psoas

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